G34C (p.Gly34Cys) variant of CLCNKB (Chloride channel protein ClC-Kb)
G34C (p.Gly34Cys) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G34C (p.Gly34Cys) variant details
- p.Gly34Cys
- Ensembl rs2124081334
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.50
- CADD 33.00
- PolyPhen-2 0.91
- SIFT 0.01
- Population evidence available
- Structural context available